Main Image

About Angel-shaped phalango-epiphyseal dysplasia

What is Angel-shaped phalango-epiphyseal dysplasia?

Angel-shaped phalango-epiphyseal dysplasia (APED) is a rare genetic disorder that affects the growth of bones in the hands and feet. It is characterized by short stature, short fingers and toes, and a distinctive angel-shaped appearance of the epiphyses (the ends of the long bones). Other features may include joint stiffness, scoliosis, and hearing loss. APED is caused by a mutation in the gene that codes for the enzyme lysyl hydroxylase-2 (LH2). Treatment is supportive and may include physical therapy, orthopedic surgery, and hearing aids.

What are the symptoms of Angel-shaped phalango-epiphyseal dysplasia?

The symptoms of Angel-shaped phalango-epiphyseal dysplasia (APED) vary from person to person, but may include:

-Short stature
-Delayed bone age
-Joint stiffness
-Flat feet
-Hip and knee pain
-Limited range of motion in the hips, knees, and ankles
-Abnormal curvature of the spine (scoliosis)
-Abnormal curvature of the fingers (clinodactyly)
-Abnormal curvature of the toes (hallux valgus)
-Abnormal shape of the ends of the long bones (epiphyseal dysplasia)
-Abnormal shape of the phalanges (phalango-epiphyseal dysplasia)
-Abnormal shape of the skull

What are the causes of Angel-shaped phalango-epiphyseal dysplasia?

Angel-shaped phalango-epiphyseal dysplasia is a rare genetic disorder caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is found in cartilage and other connective tissues. Mutations in the COL2A1 gene lead to the production of an abnormal form of type II collagen, which can cause the signs and symptoms of Angel-shaped phalango-epiphyseal dysplasia.

What are the treatments for Angel-shaped phalango-epiphyseal dysplasia?

The treatments for Angel-shaped phalango-epiphyseal dysplasia (APED) vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and preventing further complications. These may include physical therapy, occupational therapy, orthopedic surgery, and medications to reduce pain and inflammation. In some cases, braces or splints may be used to help support the affected joints. In severe cases, joint replacement surgery may be necessary.

What are the risk factors for Angel-shaped phalango-epiphyseal dysplasia?

1. Genetic mutation: Angel-shaped phalango-epiphyseal dysplasia is caused by a mutation in the COL2A1 gene.

2. Family history: Angel-shaped phalango-epiphyseal dysplasia is an inherited disorder, so having a family history of the condition increases the risk of developing it.

3. Age: Angel-shaped phalango-epiphyseal dysplasia is more common in children and adolescents.

Is there a cure/medications for Angel-shaped phalango-epiphyseal dysplasia?

Unfortunately, there is no cure for Angel-shaped phalango-epiphyseal dysplasia. However, there are medications that can help manage the symptoms of the condition. These medications include nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce pain and swelling, and physical therapy to help maintain joint mobility.